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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.52028023_52028033delinsAATACACCTTC , CM000666.2:g.52028023_52028033delinsAATACACCTTC
GRCh38
NC_000004.11:g.52894189_52894199delinsAATACACCTTC , CM000666.1:g.52894189_52894199delinsAATACACCTTC
GRCh37
NC_000004.10:g.52588946_52588956delinsAATACACCTTC
NCBI36
NG_008891.1:g.15287_15297delinsGAAGGTGTATT , LRG_204:g.15287_15297delinsGAAGGTGTATT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000381431.10:c.688_698delinsGAAGGTGTATT
MANE Select
ENSP00000370839.6:p.Glu230=
ENST00000381431.9:c.688_698delinsGAAGGTGTATT
ENSP00000370839.5:p.Glu230=
NM_000232.4:c.688_698delinsGAAGGTGTATT , LRG_204t1:c.688_698delinsGAAGGTGTATT
NP_000223.1:p.Glu230=
XM_006714049.2:c.391_401delinsGAAGGTGTATT
XP_006714112.1:p.Glu131=
XM_011534403.1:c.478_488delinsGAAGGTGTATT
XP_011532705.1:p.Glu160=
XM_011534404.1:c.391_401delinsGAAGGTGTATT
XP_011532706.1:p.Glu131=
NM_000232.5:c.688_698delinsGAAGGTGTATT
MANE Select
NP_000223.1:p.Glu230=